Canonical Allele Identifier: CA346196922

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• ClinVar Variation Id: 2203029
• ClinVar RCV Id: RCV002651445 ; RCV003485821
• dbSNP Id: rs767391188
• gnomAD v2: 2-27587620-C-T
• gnomAD v3: 2-27364753-C-T
• gnomAD v4: 2-27364753-C-T
• COSMIC: COSM1251066 ; COSM1251067
• MyVariant Identifiers: chr2:g.27587620C>T (hg19) ; chr2:g.27364753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364753C>T , CM000664.2:g.27364753C>T	GRCh38
NC_000002.11:g.27587620C>T , CM000664.1:g.27587620C>T	GRCh37
NC_000002.10:g.27441124C>T	NCBI36
NG_009305.1:g.10705G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1337G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Arg446His
ENST00000347454.8:c.1337G>A (EIF2B4)	ENSP00000233552.5:p.Arg446His
ENST00000405940.6:c.*603G>A (EIF2B4)	ENSP00000384375.2:n.*603G>A
ENST00000445933.6:c.1334G>A (EIF2B4)	ENSP00000394397.2:p.Arg445His
ENST00000451130.6:c.1397G>A (EIF2B4)	ENSP00000394869.2:p.Arg466His
ENST00000478311.1:n.330G>A (EIF2B4)
ENST00000493344.6:c.1400G>A (EIF2B4)	ENSP00000429323.1:p.Arg467His
ENST00000616081.4:c.1328G>A (EIF2B4)	ENSP00000477710.1:p.Arg443His
ENST00000622434.4:c.*603G>A (EIF2B4)	ENSP00000479991.1:n.*603G>A
NM_001034116.1:c.1337G>A (EIF2B4)	NP_001029288.1:p.Arg446His
NM_015636.3:c.1334G>A (EIF2B4)	NP_056451.3:p.Arg445His
NM_172195.3:c.1397G>A (EIF2B4)	NP_751945.2:p.Arg466His
XM_005264632.1:c.1292G>A (EIF2B4)	XP_005264689.1:p.Arg431His
XM_006712132.1:c.1289G>A (EIF2B4)	XP_006712195.1:p.Arg430His
XM_011533147.1:c.719G>A (EIF2B4)	XP_011531449.1:p.Arg240His
XR_939868.1:n.1772-2671C>T (GTF3C2-AS2)
NM_001318965.1:c.1400G>A (EIF2B4)	NP_001305894.1:p.Arg467His
NM_001318966.1:c.1292G>A (EIF2B4)	NP_001305895.1:p.Arg431His
NM_001318967.1:c.1244G>A (EIF2B4)	NP_001305896.1:p.Arg415His
NM_001318968.1:c.752G>A (EIF2B4)	NP_001305897.1:p.Arg251His
NM_001318969.1:c.719G>A (EIF2B4)	NP_001305898.1:p.Arg240His
XM_011533147.2:c.719G>A (EIF2B4)	XP_011531449.1:p.Arg240His
NM_001034116.2:c.1337G>A (EIF2B4) MANE Select	NP_001029288.1:p.Arg446His
NM_001318965.2:c.1400G>A (EIF2B4)	NP_001305894.1:p.Arg467His
NM_001318966.2:c.1292G>A (EIF2B4)	NP_001305895.1:p.Arg431His
NM_001318967.2:c.1244G>A (EIF2B4)	NP_001305896.1:p.Arg415His
NM_001318968.2:c.752G>A (EIF2B4)	NP_001305897.1:p.Arg251His
NM_001318969.2:c.719G>A (EIF2B4)	NP_001305898.1:p.Arg240His
NM_015636.4:c.1334G>A (EIF2B4)	NP_056451.3:p.Arg445His
NM_172195.4:c.1397G>A (EIF2B4)	NP_751945.2:p.Arg466His